NGLY1 Deficiency
, Lucas Kolasa
[2]
Bertrand
12/09/2007 - 10/23/2020
He will be remembered as a boy who loved to smile and make others laugh, the world’s best
daddy to his pet fish, a lover of music, lights, and Elmo, and someone skilled at snuggling and
cheering others up.
~Christina, Bertrand’s Mom
NGLY1 Deficiency
NGLY1 deficiency (or N Glycanase deficiency) is an extremely rare genetic disorder. Global
developmental delay, neurological impairment, movement disorder, and hypotonia are
characteristic features of N-Glycanse deficiency. Almost all patients have difficulty producing
tears and present abnormality on EEGs.
Artist: Lucas Kolasa